Canonical Allele Identifier: CA14778444
Gene:

Linked Data

dbSNP Id: rs13041126
gnomAD v2: 20-51092996-T-C
gnomAD v3: 20-52476457-T-C
gnomAD v4: 20-52476457-T-C
MyVariant Identifiers: chr20:g.51092996T>C (hg19) chr20:g.52476457T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.52476457T>C , CM000682.2:g.52476457T>C GRCh38
NC_000020.10:g.51092996T>C , CM000682.1:g.51092996T>C GRCh37
NC_000020.9:g.50526403T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001754670.1:n.435-54431T>C
XR_001754671.1:n.435-54431T>C
XR_002958559.1:n.472-54431T>C
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